Canonical Allele Identifier: PA645464513
Gene: FBN2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Ile269Thr
CA3396003
NM_001999.4:c.806T>C